Mutations Position Table
MAPT R5 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| R5H |
FTD : Unclear Pathogenicity, AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 1 | In one case, neuronal loss in the frontal and temporal lobes; tau deposits predominantly in glia, progressive supranuclear palsy-like straight tubules; accumulation of 4-repeat (4R), Sarkosyl-insoluble tau.
|
Promoted fibril formation in vitro, but not in a cell-based assay. Reduced microtubule assembly in vitro; increased microtubule binding in cells. |
Hayashi et al., 2002 |
| R5L |
FTD : Uncertain Significance | Substitution | Substitution | Missense | Coding | Exon 1 | Aggregated insoluble tau in subcortical regions was predominantly 4-repeat (4R) tau with 0 or 1 amino terminal inserts (i.e. 0N4R or 1N4R). Insoluble tau in cortical regions also contained 1N3R tau. |
Mixed results regarding effects on microtubule dynamics and tau aggregation. Multiple cellular processes affected in a Drosophila model. |
Poorkaj et al., 2002 |
| R5C |
FTD : Uncertain Significance, PDD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 1 | Unknown, but MRI of two carriers showed frontal atrophy, with one also having temporal atrophy and the other microangiopathy. FDG-PET showed hypoperfusion in frontal and temporal lobes of one carrier. |
Unknown, but PHRED-scaled CADD score (20.4) predicted a damaging effect. |
Schulte et al., 2015 |
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